Down Sendromunun Geçici Miyeloproliferatif Hastalığı: Vaka Sunumu

Year 2010, Volume: 10 Issue: 1, 44 - 46, 01.01.2010

Mehmet Mutlu Erol Erduman Yakup Aslan

https://doi.org/10.5222/j.child.2010.044

Abstract

Down sendromlu çocuklar 10 ila 20 kat artmış akut lösemi gelişme riskine sahiptir. Down sendromunun geçici miye- loproliferatif hastalığı DS-GMPH , Down sendromlu DS yenidoğanların % 10-20’sinde görülür. DS-GMPH’lu vakaların yaklaşık % 30’unda ilk üç yılda akut megakar- yoblastik lösemi AML-M7 gelişir. DS-GMPH’nın akut lösemiden ayrıcı bulgusu, kemik iliğindeki blast sayısının periferik kandakinden daha az olmasıdır. Bu vaka rapo- runda; DS-GMPH tanısı almış bir yenidoğan sunulmuştur. Down sendromlu yenidoğanlarda, özellikle de lökositozu veya trombositopenisi bulunanların periferik kan yayması incelemesinin, akut lösemi veya DS-GMPH yönünden önemi vurgulanmak istendi

Keywords

Down sendromu, geçici miyeloproliferatif hastalık, akut megakaryoblastik lösemi

Case report: Transient Myeloproliferative Disorder of Down Syndrome

Abstract

Children with Down syndrome have a 10- to 20-fold incre- ased risk of developing leukemia. Transient myeloprolife- rative disorder of Down syndrome TMD-DS occurs in 10-20 % of Down syndrome DS newborns. Acute mega- karyoblastic leukemia AML-M7 develops in approxima- tely 30 % of the cases with TMD-DS within the first three years of life. The distinctive finding of TMD-DS from acute leukemia is decreased percentage of the blasts in bone marrow compared to peripheral blood. In this case report, a newborn with TMD-DS is presented. We emphasize the importance of the peripheral blood smear examination in newborns with DS, especially with leucocytosis or throm- bocytopenia in order to diagnose TMD-DS or acute leuke- mia

Keywords

Down syndrome, transient myeloproliferative disorder, acute megakaryoblastic leukemia

References

• 1. Lange B. The management of neoplastic disorders of haematopoiesis in children with Down’s syndrome. Br J Haematol 2000; 110:512-24.
• 2. Zipursky A, Poon A, Doyle J. Leukemia in Down syndrome: a review. Ped Hemat Oncol 1992; 9:139-49.
• 3. Tubergen DG, Bleyer A. The Leukemias. In: Kliegman RM, Berhmann RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics:. Nelson Texbook of Pediatrics. 18th ed. Philadelphia: Saunders Elsevier, 2007: 2116-22.
• 4. Webb DKH. Optimizing therapy for myeloid disorders of Down syndrome. Br J Haematol 2005; 131:3-7.
• 5. Brink DS. Transient leukemia (transient myeloproliferative disorder, transient abnormal myelopoiesis) of Down syndrome. Adv Anat Pathol 2006; 13:256-62.
• 6. Lorsbach RB. Megakaryoblastic disorders in children. Am J Clin Pathol 2004; 122:33-46.
• 7. Massey GV, Zipursky A, Chang MN, et al. A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): a Children’s Oncology Group (COG) study POG-9481. Blood 2006; 107:4606-13.
• 8. Hayashi Y, Eguchi M, Sugita K, et al. Cytogenetic findings and clinical features in acute leukemia and transient myeloproliferative disorder in Down’s syndrome. Blood 1988; 72:15- 23.
• 9. Zipursky A, Brown EJ, Christensen H, Doyle J. Transient myeloproliferative disorder (transient leukemia) and hematologic manifestations of Down syndrome. Clin Lab Med 1999; 19:157-67.
• 10. Yagihashi N, Watanabe K, Yagihashi S. Transient abnormal myelopoiesis accompanied by hepatic fibrosis in two infants with Down syndrome. J Clin Pathol 1995; 48:973-5.
• 11. Zipursky A, Brown E, Christensen H, Sutherland R, Doyle J. Leukemia and/or myeloproliferative syndrome in neonates with Down syndrome. Semin Perinatol 1997; 21:97-101.
• 12. Lorsbach RB. Megakaryoblastic disorders in children. Am J Clin Pathol 2004; 122:33-46.
• 13. Anuk D, Tarcan A, Alioglu B, et al. Hydrops fetalis in a neonate with down syndrome, transient myeloproliferative disorder and hepatic fibrosis. Fetal Pediatr Pathol 2007; 26:223-8.
• 14. Al-Kasim F, Doyle JJ, Massey GV, Weinstein HJ, Zipursky A. Incidence and treatment of potentially lethal diseases in transient leukemia of Down syndrome: Pediatric Oncology Group study. J Pediatr Hematol Oncol 2002; 24:9-13.
• 15. Wechsler J, Greene M, McDevitt MA, et al. Acquired muta- tions in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet 2002; 32:148-52.
• 16. Crispino JD. GATA1 in normal and malignant hematopoiesis. Semin Cell Dev Biol 2005; 16:137-47.
• 17. Sato T, Toki T, Kanezaki R, et al. Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. Br J Haematol 2008; 141:681-8.